Is the spectrum of mutations in Indian patients with cystic fibrosis different?

✍ Scribed by Kabra, Madhulika ;Kabra, S.K. ;Ghosh, Manju ;Khanna, Aarti ;Arora, Sadhana ;Menon, P.S.N. ;Verma, Ishwar C. ;Wallace, Andrew

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 165 KB
• Volume: 93
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/1096-8628(20000717)93:2<161::aid-ajmg15>3.0.co;2-l

✦ Synopsis

The suggested incidence of cystic fibrosis (CF) in Asian migrants (Indians and Pakistanis) in the United Kingdom is about 1 in 10,000 to 12,000 [Goodchild et al., 1974]. There are no large studies on CF in Asian Indians. The disorder is thought to be rare and most studies from the Asian subcontinent are case reports.

Studies on Asian children of Pakistani/Indian origin in the United Kingdom have reported a frequency of ⌬F508 mutation as 40 to 50% [Bowler et al., 1993]. A recently published study on 13 patients from India showed that 53.8% of them had ⌬F508 mutation [Kabra et al., 1996]. The reported frequency of ⌬F508 mutation in the West is about 70% [Beaudet, 1992].